Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000307395 [[128779609, 128779693], [128780336, 128780462], [128780570, 128781249]] [[128780582, 128781116]]
NM_000174 [[128779609, 128779693], [128780336, 128780462], [128780570, 128781254]] [[128780582, 128781116]]
Promoter
Chrom Start End Description
chr3 128779616 128779659 CAGE_peak_1_at_GP9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129058 129058468 129058789 0.71 [{'connected_gene': 'EFCAB12', 'score': 5.02}, {'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'PIR45850', 'score': 0.44}, {'connected_gene': 'GC03M129069', 'score': 0.44}]
chr3 GH03I129207 129207019 129208016 0.49 [{'connected_gene': 'CNBP', 'score': 12.87}, {'connected_gene': 'ISY1', 'score': 11.57}, {'connected_gene': 'KIAA1257', 'score': 10.72}, {'connected_gene': 'EFCC1', 'score': 10.71}, {'connected_gene': 'GP9', 'score': 10.54}, {'connected_gene': 'POU5F1P6', 'score': 4.02}, {'connected_gene': 'GC03M129220', 'score': 0.39}, {'connected_gene': 'LOC105374101', 'score': 0.34}]
chr3 GH03I129251 129251729 129255465 0.56 [{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3 GH03I128984 128984068 128985469 0.2 [{'connected_gene': 'LOC653712', 'score': 22.22}, {'connected_gene': 'KIAA1257', 'score': 11.91}, {'connected_gene': 'GP9', 'score': 11.15}, {'connected_gene': 'RAB43', 'score': 10.51}, {'connected_gene': 'ACAD9', 'score': 5.27}, {'connected_gene': 'ENSG00000187695', 'score': 0.39}, {'connected_gene': 'EFCC1', 'score': 0.37}]
chr3 GH03I128998 128998436 128999600 0.77 [{'connected_gene': 'LOC653712', 'score': 11.54}, {'connected_gene': 'GP9', 'score': 11.19}, {'connected_gene': 'RAB43', 'score': 10.34}, {'connected_gene': 'ACAD9', 'score': 6.09}, {'connected_gene': 'EFCC1', 'score': 0.77}, {'connected_gene': 'ENSG00000187695', 'score': 0.31}, {'connected_gene': 'KIAA1257', 'score': 0.31}]
chr3 GH03I129024 129024950 129027800 1.36 [{'connected_gene': 'KIAA1257', 'score': 550.77}, {'connected_gene': 'EFCC1', 'score': 19.47}, {'connected_gene': 'GP9', 'score': 12.01}, {'connected_gene': 'CNBP', 'score': 11.58}, {'connected_gene': 'RAB43', 'score': 11.38}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129050 129050974 129055633 1.39 [{'connected_gene': 'KIAA1257', 'score': 11.3}, {'connected_gene': 'ISY1', 'score': 11.26}, {'connected_gene': 'EFCC1', 'score': 11.22}, {'connected_gene': 'RAB43', 'score': 11.11}, {'connected_gene': 'CNBP', 'score': 10.67}, {'connected_gene': 'RAB7A', 'score': 7.22}, {'connected_gene': 'RPL32P3', 'score': 5.4}, {'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'LOC100130760', 'score': 0.44}]
chr3 GH03I129256 129256618 129258851 0.57 [{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129116 129116131 129124027 2.68 [{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr3 GH03I129172 129172602 129174104 0.43 [{'connected_gene': 'RAB43', 'score': 11.5}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'CNBP', 'score': 0.39}]
chr3 GH03I129169 129169164 129172094 0.31 [{'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'RPL32P3', 'score': 5.2}, {'connected_gene': 'GC03M129158', 'score': 0.77}, {'connected_gene': 'CNBP', 'score': 0.39}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I129061 129061495 129062399 0.2 [{'connected_gene': 'ACAD9', 'score': 5.4}, {'connected_gene': 'PIR45850', 'score': 0.44}, {'connected_gene': 'GC03M129069', 'score': 0.44}, {'connected_gene': 'GP9', 'score': 0.44}]
chr3 GH03I129064 129063107 129063575 0.2 [{'connected_gene': 'ACAD9', 'score': 5.39}, {'connected_gene': 'PIR45850', 'score': 0.77}, {'connected_gene': 'GC03M129069', 'score': 0.77}, {'connected_gene': 'GP9', 'score': 0.44}]
chr3 GH03I129021 129021927 129023929 0.89 [{'connected_gene': 'GP9', 'score': 11.89}, {'connected_gene': 'CNBP', 'score': 11.57}, {'connected_gene': 'RAB43', 'score': 11.15}, {'connected_gene': 'LOC653712', 'score': 6.47}, {'connected_gene': 'EFCC1', 'score': 5.01}, {'connected_gene': 'ENSG00000261159', 'score': 4.31}, {'connected_gene': 'KIAA1257', 'score': 0.77}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129013 129013507 129018830 1.3 [{'connected_gene': 'GP9', 'score': 11.42}, {'connected_gene': 'RAB43', 'score': 11.14}, {'connected_gene': 'ISY1', 'score': 10.87}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RAB7A', 'score': 4.55}, {'connected_gene': 'LOC653712', 'score': 4.05}, {'connected_gene': 'PIR62024', 'score': 0.44}, {'connected_gene': 'EFCC1', 'score': 0.39}, {'connected_gene': 'KIAA1257', 'score': 0.39}]
chr3 GH03I129020 129020500 129021621 0.58 [{'connected_gene': 'GP9', 'score': 11.44}, {'connected_gene': 'RAB43', 'score': 11.14}, {'connected_gene': 'ACAD9', 'score': 5.29}, {'connected_gene': 'KIAA1257', 'score': 0.44}, {'connected_gene': 'PIR62024', 'score': 0.39}, {'connected_gene': 'EFCC1', 'score': 0.37}]
chr3 GH03I129086 129086755 129088692 0.86 [{'connected_gene': 'GP9', 'score': 12.57}, {'connected_gene': 'ENSG00000187695', 'score': 12.09}, {'connected_gene': 'RAB43', 'score': 11.23}, {'connected_gene': 'RPL32P3', 'score': 4.7}, {'connected_gene': 'PIR45850', 'score': 0.34}, {'connected_gene': 'GC03M129069', 'score': 0.34}, {'connected_gene': 'PIR33900', 'score': 0.31}, {'connected_gene': 'ISY1-RAB43', 'score': 0.19}]
chr3 GH03I128616 128616167 128620958 1.45 [{'connected_gene': 'GP9', 'score': 19.4}, {'connected_gene': 'POU5F1P6', 'score': 13.21}, {'connected_gene': 'DNAJB8', 'score': 12.52}, {'connected_gene': 'RPN1', 'score': 8.46}, {'connected_gene': 'GATA2', 'score': 4.52}, {'connected_gene': 'RAB7A', 'score': 2.92}, {'connected_gene': 'KIAA1257', 'score': 1.84}, {'connected_gene': 'GC03P128663', 'score': 0.44}, {'connected_gene': 'LINC01565', 'score': 0.26}]
chr3 GH03I129059 129059193 129059928 0.43 [{'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'PIR45850', 'score': 0.44}, {'connected_gene': 'GC03M129069', 'score': 0.44}]
chr3 GH03I129060 129060686 129060745 0.88 [{'connected_gene': 'GP9', 'score': 550.44}, {'connected_gene': 'PIR45850', 'score': 0.44}, {'connected_gene': 'GC03M129069', 'score': 0.44}]
chr3 GH03I129056 129056978 129057106 0.86 [{'connected_gene': 'GP9', 'score': 550.77}, {'connected_gene': 'PIR45850', 'score': 0.39}, {'connected_gene': 'GC03M129069', 'score': 0.39}]
chr3 GH03I129248 129248298 129250875 2.18 [{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3 GH03I129045 129045540 129047575 0.58 [{'connected_gene': 'LOC100130760', 'score': 550.77}, {'connected_gene': 'GP9', 'score': 0.44}]
chr3 GH03I129063 129063805 129067720 0.46 [{'connected_gene': 'PIR45850', 'score': 550.77}, {'connected_gene': 'GC03M129069', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 11.12}, {'connected_gene': 'EFCC1', 'score': 11.06}, {'connected_gene': 'ISY1', 'score': 4.95}, {'connected_gene': 'RPL32P3', 'score': 4.22}, {'connected_gene': 'GP9', 'score': 0.39}]
chr3 GH03I129127 129127435 129128350 0.31 [{'connected_gene': 'PIR52955', 'score': 550.77}, {'connected_gene': 'PIR40814', 'score': 550.77}, {'connected_gene': 'ISY1', 'score': 12.35}, {'connected_gene': 'GP9', 'score': 10.96}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.29}]
chr3 GH03I129167 129167403 129168699 0.31 [{'connected_gene': 'GC03M129158', 'score': 550.77}, {'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.81}, {'connected_gene': 'RPL32P3', 'score': 5.06}, {'connected_gene': 'CNBP', 'score': 0.37}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I129062 129062525 129062996 0.2 [{'connected_gene': 'PIR45850', 'score': 0.77}, {'connected_gene': 'GC03M129069', 'score': 0.77}, {'connected_gene': 'GP9', 'score': 0.44}]
chr3 GH03I129223 129223795 129235799 1.75 [{'connected_gene': 'GC03M129230', 'score': 550.77}, {'connected_gene': 'LOC105374102', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 24.24}, {'connected_gene': 'RAB43', 'score': 23.67}, {'connected_gene': 'CNBP', 'score': 17.84}, {'connected_gene': 'GP9', 'score': 17.81}, {'connected_gene': 'ISY1', 'score': 15.55}, {'connected_gene': 'HMCES', 'score': 14.67}, {'connected_gene': 'MBD4', 'score': 13.58}, {'connected_gene': 'RPL32P3', 'score': 5.23}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'POU5F1P6', 'score': 4.3}, {'connected_gene': 'RAB7A', 'score': 4.03}, {'connected_gene': 'RPS27P12', 'score': 0.39}]
chr3 GH03I128854 128854510 128855200 0.81 [{'connected_gene': 'PIR44450', 'score': 550.77}, {'connected_gene': 'GC03P129747', 'score': 550.77}, {'connected_gene': 'MARK2P6', 'score': 550.77}, {'connected_gene': 'PIR57858', 'score': 550.77}, {'connected_gene': 'PIR37466', 'score': 550.77}, {'connected_gene': 'PIR36760', 'score': 550.77}, {'connected_gene': 'GC03P129754', 'score': 550.77}, {'connected_gene': 'PIR58303', 'score': 550.77}, {'connected_gene': 'GC03P129786', 'score': 550.77}, {'connected_gene': 'PIR57078', 'score': 550.77}, {'connected_gene': 'PIR42551', 'score': 550.77}, {'connected_gene': 'PIR55750', 'score': 550.77}, {'connected_gene': 'PIR52523', 'score': 550.77}, {'connected_gene': 'PIR36399', 'score': 550.77}, {'connected_gene': 'GC03P129755', 'score': 550.77}, {'connected_gene': 'ACAD9', 'score': 36.07}, {'connected_gene': 'GP9', 'score': 10.21}, {'connected_gene': 'DNAJB8', 'score': 2.07}, {'connected_gene': 'LINC01565', 'score': 1.56}]

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